X Inactivation, Familial Skewed, 1; Sxi1

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all somatic tissues. In the embryo proper, the process of X inactivation is considered to be random between the maternal and paternal chromosomes. Thus, most females have mosaic expression of maternal and paternal alleles of X chromosome loci, with a contribution of about 50% from each chromosome. However, some females show a skewed ratio of X inactivation, which can be due to negative or positive selection, or to an underlying primary genetic process. Belmont (1996) observed familial clustering of females with highly skewed patterns of X inactivation and reviewed the genetic control of X inactivation. Genetic Heterogeneity of Skewed X InactivationSee also SXI2 (OMIM ) for a locus that maps to chromosome Xq25-q26.

Genes related to X Inactivation, Familial Skewed, 1; Sxi1

XIST

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Clinical Features

Phenotypes and symptoms related to X Inactivation, Familial Skewed, 1; Sxi1

Muscular dystrophy
Postural instability
Spontaneous abortion

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

X Inactivation, Familial Skewed, 1; Sxi1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Male Factor Infertility. By Asper Biogene Asper Biogene LLC (Estonia). TEKT2, XIST, USP26, PRDM9, RXFP2, RBMXL2, DDX25, CFTR, UTP14C, NLRP14, DNAH11, DNAH5, DNAI1, ESR2, FMR1, FSHB, GNRHR, INSL3, PRM1, PRM2 Specificity 5 % Genes 100 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics (United States). BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2 , (...) View the complete list with 367 more genes Panel complete gene list BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2, SLC5A5, SLC6A4, SLC6A8, SLC7A7, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX10, SOX2, SOX3, ATL1, SPR, SPTAN1, SPTLC1, STAT5B, CDKL5, STX11, STXBP1, SUCLG1, BUB1B, SYNGAP1, SYP, TBCE, TBX1, TGIF1, TH, THRB, TINF2, TSPAN7, ACOX1, TSC1, TSC2, CEP41, TTR, TUBA8, TWIST1, UBE2A, UBE3A, USP9X, VLDLR, WRN, XIST, ZIC2, ZBTB16, MRAP, FTSJ1, HDAC8, MCOLN1, NSDHL, GFM1, CNTNAP2, ABCG5, CACNG2, HDAC4, PCDH19, NLGN3, SHANK3, SHANK2, IRX5, NHP2, ELOVL4, NPC2, COG5, ZEB2, CASK, MBTPS2, CBS, NDUFAF5, SAMHD1, PCNT, UPB1, RAB39B, HAX1, PRICKLE1, CPA6, BRWD3, TPK1, CDH15, ACY1, PDSS1, CDKN1C, FKRP, ARID1B, ARX, TMCO1, ATP6AP2, ZDHHC9, COG7, ZFP57, CAMTA1, ASPM, POMGNT1, KIF21A, ALG12, CHRNA4, LYST, CANT1, POMT2, CCDC88C, SLC35C1, UPF3B, MBD5, BRIP1, CHD7, PHF8, TPH2, CLN3, ZFYVE26, TUBA1A, TUBB3, ZBTB24, PDHX, RFX6, AHI1, SATB2, VPS13B, KCTD7, COL1A2, ADAR, CP, GNPTG, LMBRD1, SYT14, ALG6, KIRREL3, PIGO, CRADD, TTC37, MED23, MED17, SLX4, GLYCTK, WDR62, FAM126A, SIL1, EHMT1, FTO, G6PC3, TMEM216, CTNNB1, MMADHC, RAB40AL, DARS2, CUL4B, OFD1, NHEJ1, SRD5A3, NSUN2, PIGV, CYP27A1, TMEM70, CTC1, HEPACAM, UROC1, WDR81, AMER1, DBT, XPNPEP3, D2HGDH, TMEM67, MFSD8, DHCR24, DHCR7, CYB5R3, NIPBL, MAGT1, DLG3, CEP290, IQSEC2, ADSL, RPGRIP1L, TBC1D24, SHROOM4, CC2D2A, SOBP, DMD, DIP2B, DYNC1H1, MTFMT, GNPTAB, BBS9, DPYD, CRBN, ATP13A2, CC2D1A, TUSC3, KIF7, SLC46A1, SNIP1, STRA6, SRPX2, TMEM165, CEP57, TUBB2B, TRAPPC9, HUWE1, DYRK1A, EBP, AFP, AGL, EFNB1, ALG11, AGTR2, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, F5, ACSL4, FANCG, FBLN5, FBN1, FBN2, FKTN, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FMR1, AFF2, FOXG1, FOXP1, ALDH4A1, GABRG2, GALE, GAMT, GAN, GBA, GBE1, GCK, GDI1, GFAP, GHR, GLI3, GLRA1, GLUL, GM2A, GNAS, GNPAT, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GSS, GUSB, GYS2, HSD17B10, HEXB, HOXD10, HPD, HSPD1, IDS, IGBP1, IGF1, IGF1R, AP1S1, AP1S2, AP3B1, ABCC6, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, INSR, ABCD1, ITGA7, KCNJ10, KCNJ11, KCNK9, KCNQ2, KIF5A, KIF11, AQP7, KRAS, AR, L1CAM, LAMA2, LAMP2, LARGE1, LBR, LHX3, LIG4, ARG1, LRP5, MAN1B1, MAN2B1, MANBA, ARHGEF6, MAPT, MAT1A, MCCC1, MCCC2, MCPH1, MECP2, MEF2C, MGAT2, MKKS, MOCS2, MPI, MPZ, MTHFR, MTR, MYCN, ASS1, MYO5A, MYO7A, NAGA, NBN, NDP, NDUFA1, NDUFS1, NF1, NGF, NPC1, NPHP3, ATM, ATP1A2, NRXN1, OPHN1, ORC1, PAFAH1B1, PAH, PAK3, PAX6, ATP7A, AIFM1, PDE4D, ATRX, PEX7, KIF1A, PGK1, AUH, PHKA2, PHKG2, AVP, PIGL, AVPR2, PLA2G6, PLP1, POMT1, POU1F1, CTSA, PPOX, ACAT1, PQBP1, PRKAR1A, PRSS12, PTEN, PTPN11, PYCR1, ALDH18A1, PYGL, RAI1, RAPSN, RBBP8, RBM10 Specificity 1 % Genes 100 %
XIST. By Fulgent Genetics Fulgent Genetics (United States). XIST Specificity 100 % Genes 100 %

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Sources and references

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